Thalassemia Trait- Symptoms, Alpha-Beta Thalassemia Trait


The thalassemia trait is a health condition passed through the genes. A child gets the trait if only one of his/her parents carry the thalassemia gene. It differs from the full-blown thalassemia disease, because the disease only occurs if both parents have the thalassemia gene.

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The thalassemia disease encompasses the defective and decreased production of the hemoglobin, the component of the red blood cells that carries the oxygen in the blood as it is distributed to the entire body. It is also responsible in transporting carbon dioxide or waste gas to the lungs for it to be expelled. With thalassemia, the body lessens the production of healthy hemoglobin cells as well as produces flawed hemoglobin. The body, therefore, has reduced quantity of healthy red blood cells.

People who have the thalassemia trait can have either severe or mild anemia. Anemia is an illness of the body where the amount of red blood cells is lower than normal. This also means that with thalassemia trait the red blood cells could be smaller than the normal size and the hemoglobin level in the blood is lower.

Thalassemia comes in different forms. Each of these types has different and distinct manifestations. Children with mild cases show little or no symptoms at all, while those with severe cases require medical treatment.

KINDS OF THALASSEMIA

There are two kinds of protein chains in each hemoglobin molecule – the alpha and beta chain. The two types of thalassemia are named after which chain is affected. Any abnormality in these chains leads to irregularities in the production, shape and size of the red blood cells.

Alpha-Thalassemia

This occurs when one or two alpha globin genes are affected. Alpha-thalassemia trait in children does not mean the existence of the disease. Usually, this has no serious effects on the health. Mild case of anemia which causes fatigue may however occur. If more than 2 alpha globin genes are affected, the patient will have moderate to serious anemia which may necessitate transfusions of blood during illnesses, stress or fatigue. The most serious form of the alpha thalassemia is called hydrops fetalis or alpha thalassemia major. Infants or newborns that have this thalassemia trait die shortly after or before birth.

Beta-thalassemia

This type arises if the beta chain is affected. This is classified into three categories, namely, beta-thalassemia trait (minor), intermedia and major or Cooley’s anemia.

As with alpha-thalassemia trait, beta-thalassemia minor may go undiagnosed because of the absence of more distinct symptoms. Though, slight anemia may develop, this may be misconstrued as iron deficiency anemia.

With beta-thalassemia intermedia, the symptoms range from mild anemia to severe ones that require blood transfusions regularly. Shortness of breath, fatigue, jaundice, heart palpitations, enlargement of spleen and liver and stunted growth may also result from this condition. Bone abnormalities and gallstones are some complications that may arise. Children with severe symptoms typically require regular blood transfusions to cope with reduced hemoglobin and red blood cells. The severe forms are usually diagnosed either during birth or early childhood. Thalassemia is a life-long condition but management and treatment is possible if the disease is diagnosed early and no serious complications have come about yet.

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CAUSES

Thalassemia trait is an inherited condition. A child does not inherit thalassemia unless both parents have the thalassemia genes. There are many families carrying the thalassemia trait but oftentimes this disease is left undiagnosed because the symptoms being produced are quite few or nothing at all. Sometimes thalassemia is not diagnosed and recorded into the family medical history until a baby is diagnosed with it after he or she is born. If you have knowledge about your family having thalassemia, take the initiative and have genetic counseling when you plan to have children.

There was one time when people believed that the thalassemia trait only affected people from Greek or Italian descent but with recent studies, it has become known to affect other races on other parts of the world such as in Southeast Asia, Africa, China and Malaysia. Because of the growing exodus of people from Southeast Asia, thalassemia cases have increased in North America. Tests for thalassemia are highly recommended for anyone that comes from the SE Asia that shows inexplicable anemia. Newborn babies may be diagnosed for thalassemia through the newborn screening. During prenatal, there are also tests that you can avail of to find out if the fetus has the thalassemia genes.

SIGNS AND SYMPTOMS OF THALASSEMIA TRAIT

Lack of oxygen is resulted from the low levels of hemoglobin and red blood cells in the blood so this will cause various symptoms of thalassemia. Alpha thalassemia generally does not give any symptoms or signs pointing to the disorder. The reason for such a case is because the alpha globin protein deficiency is relatively minor that the hemoglobin in the blood works on normal levels.

Mild anemia affects those who either have beta or alpha thalassemia traits although generally there are no symptoms or signs associated with these kinds of thalassemia. Mild anemia gives the body the feeling of tiredness or fatigue which is oftentimes mistaken as iron-deficiency anemia. To those who have beta thalassemia intermedia they will experience either moderate or mild anemia. This sometimes includes one or two of the following:

• Delayed puberty and slowed growth which is caused by anemia.

• Enlarged spleen – The spleen is the organ responsible in fighting against infection and destroys unwanted material. When coupled with thalassemia, the spleen works double-time which results to larger spleen and worsening of anemia. When the spleen has reached abnormality, it must be removed.

• Bone marrow expansion – Thalassemia causes the bone marrow to expand because it is working overtime to cope with reduced RBCs in the blood.

Severe anemia causes the patient to have bone problems, jaundice, poor appetite, pale appearance, dark urine which is a sign of the red blood cells breaking apart, large liver, heart and spleen and delayed puberty and slowed growth.

Treatments for thalassemia trait depend on the kind of thalassemia affecting the body. No treatment is necessary for those who have alpha or beta thalassemia. Doctors use standard treatments for severe or moderate thalassemia in order to prevent it from getting worse. Depending on the case these may involve iron chelation therapy, folic acid supplements and blood transfusions.

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